• PMID: 23090267
• Gene Name: MTHFR
• Condition: Idiopathic male infertility, including erectile dysfunction (ED)
• Association: The observations suggest that the C677T polymorphism of MTHFR gene has no direct relationship to erectile dysfunction, but does exhibit a relationship between this rs1801133 polymorphism and plasma LH concentrations.
• Mutation: C677T polymorphism (rs1801133)
• Population size: 90
• Population details: 90 healthy men with ED
• Age: 32 and 61
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic male infertility, including erectile dysfunction (ED)

The relationship between the C677T polymorphism of the MTHFR gene and serum levels of luteinizing hormone in males with erectile dysfunction

Šerý O, Šrámková T, Klempová J, Štastný F, Lochman J, Khan NA.

OBJECTIVES: The methylenetetrahydrofolate reductase (MTHFR) enzyme activity plays an important role in the metabolism of folate within methionine-homocysteine pathway and, consequently, in the development of vascular diseases. The C677T polymorphism (rs1801133) of the MTHFR gene affects the MTHFR activity, modifies the homocysteine plasma concentration and, among others, increases the risks for idiopathic male infertility, including erectile dysfunction (ED). As this sexual dysfunction is related to sex hormone levels, we investigated a possible relationship between the C677T polymorphism of the MTHFR gene and plasma concentrations of follicle-stimulating hormone (FSH) as well as luteinizing hormone (LH) in male patients with ED. METHODS: We conducted our study on 90 healthy men with ED between the age of 32 and 61 (mean age was 51.1 ± 11.5) years. The subjects were genotyped and their FSH and LH plasma levels were analysed. RESULTS: The analysis results of ED patients and their genotypes of the MTHFR gene did not provide evidence supporting any causal association of T allele in CT and TT genotypes with studied clinical parameters. However, we found that patients with the CC genotype had significantly higher plasma levels of LH than patients with the CT and/or TT genotypes. CONCLUSIONS: Our observations suggest that the C677T polymorphism of MTHFR gene has no direct relationship to erectile dysfunction, but does exhibit a relationship between this rs1801133 polymorphism and plasma LH concentrations. FAU - Šerý, Omar AU - Šerý O AD - Laboratory of Neurobiology and Molecular Psychiatry, Laboratory of Molecular Physiology, Department of Biochemistry, Faculty of Science, Masaryk University, 611 37 Brno, Czech Republic. omarsery@sci.muni.cz FAU - Šrámková, Taťána AU - Šrámková T FAU - Klempová, Jitka AU - Klempová J FAU - Štastný, František AU - Štastný F FAU - Lochman, Jan AU - Lochman J